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Profile of Iranian GJB2 Mutations in Young Population with Novel Mutation.
Published in:
Iranian Journal of Basic Medical Sciences, 2011, v. 14, n. 3, p. 213
By:
- Falah, Masoumeh;
- Houshmand, Massoud;
- Akbaroghli, Susan;
- Mahmodian, Saeid;
- Ghavami, Yaser;
- Farhadi, Mohammad
Publication type:
Article
Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica.
Published in:
International Journal of Molecular Sciences, 2017, v. 18, n. 3, p. 635, doi. 10.3390/ijms18030635
By:
- Kariminejad, Ariana;
- Afroozan, Fariba;
- Bozorgmehr, Bita;
- Ghanadan, Alireza;
- Akbaroghli, Susan;
- Khorshid, Hamid Reza Khorram;
- Mojahedi, Faezeh;
- Setoodeh, Aria;
- Loh, Abigail;
- Yu Xuan Tan;
- Escande-Beillard, Nathalie;
- Malfait, Fransiska;
- Reversade, Bruno;
- Gardeitchik, Thatjana;
- Morava, Eva
Publication type:
Article
Van Maldergem syndrome and Hennekam syndrome: Further delineation of allelic phenotypes.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1166, doi. 10.1002/ajmg.a.38652
By:
- Ivanovski, Ivan;
- Akbaroghli, Susan;
- Pollazzon, Marzia;
- Gelmini, Chiara;
- Caraffi, Stefano Giuseppe;
- Mansouri, Mahboubeh;
- Chavoshzadeh, Zahra;
- Rosato, Simonetta;
- Polizzi, Valeria;
- Gargano, Giancarlo;
- Alders, Marielle;
- Garavelli, Livia;
- Hennekam, Raoul C.
Publication type:
Article
Investigation of Chromosomal Abnormalities and Microdeletion/ Microduplication(s) in Fifty Iranian Patients with Multiple Congenital Anomalies.
Published in:
Cell Journal (Yakhteh), 2019, v. 21, n. 3, p. 337, doi. 10.22074/cellj.2019.6053
By:
- Mohammadzadeh, Akbar;
- Akbaroghli, Susan;
- Aghaei-Moghadam, Ehsan;
- Mahdieh, Nejat;
- Badv, Reza Shervin;
- Jamali, Payman;
- Kariminejad, Roxana;
- Chavoshzadeh, Zahra;
- Firouzabadi, Saghar Ghasemi;
- Ghanaie, Roxana Mansour;
- Nozari, Ahoura;
- Banihashemi, Sussan;
- Hadipour, Fatemeh;
- Hadipour, Zahra;
- Kariminejad, Ariana;
- Najmabadi, Hossein;
- Shafeghati, Yousef;
- Behjati, Farkhondeh
Publication type:
Article
Next-generation sequencing identified novel truncating mutations in BBS9 causing Bardet Biedl syndrome in two Iranian consanguineous families.
Published in:
Iranian Journal of Child Neurology, 2022, v. 16, n. 1, p. 123, doi. 10.22037/ijcn.v16i1.31650
By:
- AKBAROGHLI, Susan;
- KOOSHAVAR, Daniz;
- GOLCHEHRE, Zahra;
- KARAMZADE, Arezou;
- SABERI, Mohammad;
- ALAEI, Mohammad Reza;
- SADEGH, Masoud ABBASI;
- ASADOLLAHI, Mostafa;
- KERAMATIPOUR, Mohammad
Publication type:
Article
Identification of a new mutation in an Iranian family with hereditary multiple osteochondromas.
Published in:
2017
By:
- Akbaroghli, Susan;
- Balali, Maryam;
- Kamalidehghan, Behnam;
- Saber, Siamak;
- Aryani, Omid;
- Goh Yong Meng;
- Houshmand, Massoud;
- Meng, Goh Yong
Publication type:
journal article

Found: 6

Profile of Iranian GJB2 Mutations in Young Population with Novel Mutation.

Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica.

Van Maldergem syndrome and Hennekam syndrome: Further delineation of allelic phenotypes.

Investigation of Chromosomal Abnormalities and Microdeletion/ Microduplication(s) in Fifty Iranian Patients with Multiple Congenital Anomalies.

Next-generation sequencing identified novel truncating mutations in BBS9 causing Bardet Biedl syndrome in two Iranian consanguineous families.

Identification of a new mutation in an Iranian family with hereditary multiple osteochondromas.